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Spermatogenesis disorder is associated with mutations in the ligand-binding domain of an androgen receptor

Andrologia Aug 08, 2019

Hasani N, et al. - Fifty-one biopsy samples were collected for routine clinical purposes from 15 men with hypospermatogenesis, 17 patients with maturation arrest and 19 patients with Sertoli cell-only syndrome by the researchers in order to examine the androgen receptor (AR) gene mutations in a cohort of males with idiopathic azoospermia who were referred to Royan Institute. The AR cDNAs were prepared from tissue mRNAs and were sequenced. One similar variant and three nonsynonymous protein-coding single nucleotide polymorphisms (nsSNPs) were discovered. Protein structure prognostication exhibited that the S815I and M746T nonsynonymous variants would influence protein structure and its normal function. In conclusion, mutations in the AR gene would alter or interrupt the receptor's normal activity. However, these variations may affect spermatogenesis, it was hard to say that they resulted in a lack of spermatogenesis.
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